Physical mapping of the breakpoints of a pericentric inversion of the X chromosome (46,X,inv[X][p21q27]) in a female patient with mild mental retardation revealed localization of the Xp breakpoint in the IL1RAPL gene at Xp21.3 and the Xq breakpoint near the SOX3 gene (SRY [sex determining region Y]–box 3) (GenBank accession number NM_005634) at Xq26.3. Because carrier females with microdeletion in the IL1RAPL gene do not present any abnormal phenotype, we focused on the Xq breakpoint. However, we were unable to confirm the involvement of SOX3 in the mental retardation in this female patient. To validate SOX3 as an X-linked mental retardation (XLMR) gene, we performed mutation analyses in families with XLMR whose causative gene mapped to Xq2...
Genomic duplications of varying lengths at Xq26-q27 involving SOX3 have been described in families w...
Failure of normal brain development or functioning can lead to mental re tardation (MR), now often r...
In the course of systematic screening of the X-chromosome coding sequences in 250 families with nons...
Physical mapping of the breakpoints of a pericentric inversion of the X chromosome (46,X,inv[X][p21q...
Item does not contain fulltextPhysical mapping of the breakpoints of a pericentric inversion of the ...
Physical mapping of the breakpoints of a pericentric inversion of the X chromosome (46,X,inv[X][p21q...
Physical mapping of the breakpoints of a pericentric inversion of the X chromosome (46,X,inv[X][p21q...
Duplications of Xq26-27 have been implicated in the etiology of X-linked hypopituitarism associated ...
Duplications of Xq26-27 have been implicated in the etiology of X-linked hypopituitarism associated ...
OBJECTIVE: SOX3 is located on the long arm of the X chromosome (Xq27.1) and both the under- and over...
Backgound and Aims: Correct gene dosage of SOX3 is critical for the development of the hypothalamo-p...
A male patient with profound mental retardation, athetosis, nystagmus, and severe congenital hypoton...
Copyright © 2004 by the BMJ Publishing Group Ltd.Methods: We have identified a pericentric inversion...
AbstractThe ATR-X syndrome is an X-linked disorder comprising severe psychomotor retardation, charac...
Genomic duplications of varying lengths at Xq26-q27 involving SOX3 have been described in families w...
Genomic duplications of varying lengths at Xq26-q27 involving SOX3 have been described in families w...
Failure of normal brain development or functioning can lead to mental re tardation (MR), now often r...
In the course of systematic screening of the X-chromosome coding sequences in 250 families with nons...
Physical mapping of the breakpoints of a pericentric inversion of the X chromosome (46,X,inv[X][p21q...
Item does not contain fulltextPhysical mapping of the breakpoints of a pericentric inversion of the ...
Physical mapping of the breakpoints of a pericentric inversion of the X chromosome (46,X,inv[X][p21q...
Physical mapping of the breakpoints of a pericentric inversion of the X chromosome (46,X,inv[X][p21q...
Duplications of Xq26-27 have been implicated in the etiology of X-linked hypopituitarism associated ...
Duplications of Xq26-27 have been implicated in the etiology of X-linked hypopituitarism associated ...
OBJECTIVE: SOX3 is located on the long arm of the X chromosome (Xq27.1) and both the under- and over...
Backgound and Aims: Correct gene dosage of SOX3 is critical for the development of the hypothalamo-p...
A male patient with profound mental retardation, athetosis, nystagmus, and severe congenital hypoton...
Copyright © 2004 by the BMJ Publishing Group Ltd.Methods: We have identified a pericentric inversion...
AbstractThe ATR-X syndrome is an X-linked disorder comprising severe psychomotor retardation, charac...
Genomic duplications of varying lengths at Xq26-q27 involving SOX3 have been described in families w...
Genomic duplications of varying lengths at Xq26-q27 involving SOX3 have been described in families w...
Failure of normal brain development or functioning can lead to mental re tardation (MR), now often r...
In the course of systematic screening of the X-chromosome coding sequences in 250 families with nons...